Associated Papers
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
Dongerdiye R et al.
Annals of Hematology, 2023
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
Russo R et al.
American Journal of Hematology, 2018
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy.
Pastore L et al.
Human Mutation, 1998
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